Search

Background: Congenital myasthenic syndromes (CMS) are rare inherited heterogeneous disorders of neuromuscular transmission. Aims and methodology: This study aims to describe clinical and investigative characteristics including genetic aspects of patients with congenital myasthenic syndrome (CMS), in a cohort from western India. Retrospective analysis for the study period of 9 years (−January 2013 to December 2021) was performed. Patients were identified by predefined selection criteria using a combination of clinical, electrophysiological, and genetic studies. Results: Fifteen genetically evaluated CMS patients, 11 females, and 4 males were identified. Ten patients had a history of fatigable ptosis at an early age, whereas all patients had varying degrees of proximal weakness at the time of presentation. The mean age at onset was 16 years and the mean age at final diagnosis was 22 years, thereby representing a mean delay in diagnosis of 6 years. Among the total 13 different genetic mutations identified, 4 are not previously reported. The most common genetic mutations identified were CHRNE gene (in 7 patients) followed by DOK7 gene (in 6 patients), and the remaining 2 patients had mutation in MUSK gene. Roma founder mutation (c.1327delG, p.E443ter) was seen in 5 patients with CHRNE gene. Four patients responded to pyridostigmine alone, 7 patients to salbutamol, whereas 4 patients required a combination of pyridostigmine and salbutamol. Conclusion: This study, carried out in a small cohort of patients, highlights the frequent occurrence of Roma founder mutation in our population, and the predominance of CHRNE and DOK7 gene mutations, points of regional importance. Four novel variants were also identified in the genetic studies carried out. [ABSTRACT FROM AUTHOR]

Purpose: This study compares the 8th edition staging of AJCC for prognosis of eyelid Sebaceous Gland Carcinoma (SGC) patients with respect to the 7th edition. Methods: A retrospective study was undertaken over a period of 100 months. Ninety‐nine histopathologically proven cases of eyelid SGC available for follow‐up were recruited. Patients were staged by both the 7th and 8th editions of AJCC and followed up at six monthly intervals after surgery. Results: Of the 99 eyelid SGC patients recruited, recurrence and orbital invasion developed in 22%, lymph node metastasis in 21% and 4% had distant metastasis and also died. High‐risk features include tumour size>20 mm, orbital invasion, exenteration and staging by both the 7th and 8th editions of AJCC. Cox regression analysis revealed that staging by AJCC 8th edition was associated with greater risk for local recurrence (HR 3.01,95% CI‐1.65–5.51%, p < 0.01) lymph node metastasis (HR 8.26, 95% CI 3.96–17.19%, p < 0.01) and disease‐free survival (HR 4.61, 95% CI 2.81–7.54). The Kaplan–Meir survival curves of eyelid SGC patients by the 8th edition AJCC staging were also significantly associated with lymph node metastasis (p < 0.01), tumour‐related deaths (p < 0.01) and reduced disease‐free survival (p = 0.07). The higher Harrell's values by the 8th edition signify better predictive value for lymph node metastasis and DFS (disease‐free survival). The lower AIC values indicate a better monotonicity of gradients for lymph node metastasis, recurrence and DFS. Conclusion: Staging by the 8th AJCC edition is, therefore, recommended for eyelid SGC as it gives a better perspective about disease outcome. The orbital extension was the single most important predictor of lymph node metastasis, recurrence and death. [ABSTRACT FROM AUTHOR]

Purpose: To describe the prevalence, demographics and clinical presentations of chalazion in patients presenting to a multi-tier ophthalmology network in India. Materials and Methods: This was a cross-sectional observational multi-centric hospital-based study of 1,982,058 new patients presenting between 2010 and 2019. Patients with both symptoms and signs of chalazion were considered as subjects. The data were retrieved using an electronic medical record system. Results: Overall, 11,270 (0.57%) new patients were diagnosed with chalazion. Of these, 1,085 (10%) patients had recurrent chalazia. The prevalence rates were 0.95% in children and 0.51% in adults. Males accounted for 51% of the cases, and 79% had unilateral affliction. The commonest age group affected was the third decade of life (31%). Of the 13,691 affected eyes with chalazion, 39% were located in the upper eyelid, 6% were lateral in position and 3% have multiple swellings at presentation. Conservative treatment was the preferred treatment modality in 85%. Incision and curettage were performed in 15% eyes and intralesional steroid in 0.55% eyes. Of the 15% patients that were advised surgery, 9% underwent the procedure with a conversion rate of 58%. Conclusion: Only a miniscule percentage of patients seeking eye care in India are affected by chalazion. It is slightly more common in males and is usually unilateral and largely affects the upper eyelids. It is recurrent in a tenth of the cases. Conservative management is the preferred modality. [ABSTRACT FROM AUTHOR]

Introduction: India is plagued by ocular morbidities in school-children. However, there exists paucity of studies, school health check-ups, and health education in the north-eastern region. This study aimed at estimating the prevalence and pattern of various ocular morbidities in school-going children of Shillong. Methodology: It was a school-based cross-sectional study done in Shillong, Meghalaya among 540 school-going children from class VI to X. Data were analyzed using SPSS version 23. Results: The most common ocular morbidity was refractive error (57.4%) followed by vitamin A deficiency (38.1%), color blindness (3.1%), nevus (3%), manifest squint (2.2%), ptosis (2.2%), conjunctivitis (0.9%), stye (0.4%), etc., There was statistically significant association (P = 0.0192) among the variations of presence of ocular morbidities in the various age groups, among students attending Government or Private schools (P = 0.0430), and socio-economic status (P = 0.012). The prevalence of ocular morbidities was found to have highly significant association with the educational status of both the father (P = 0.0001) and mother (P = 0.001). In addition, the occupational status of the father (P = 0.0472) and the mother (P = 0.0251) were significantly associated with the prevalence too. Conclusion: The prevalence of ocular morbidities was found to be much higher than in other places of the country, which may be because of environmental factors and lifestyle combined with a lack of awareness and timely diagnosis and an absence of robust school health program. A regular screening along with specific health education campaigns can go a long way in decreasing the same. [ABSTRACT FROM AUTHOR]

A 23 year female presented with bilateral recurrent swelling of eyelids along with ptosis and proptosis for last 3 years. She also had swellings over the right cheek, parotid gland, and retro auricular area along with regional lymphadenopathy. Systemic laboratory workup revealed raised serum IgE and a high peripheral eosinophil count. Computed tomography and magnetic resonance imaging showed bilateral enlargement of extraocular muscles, lacrimal glands, and ipsilateral parotid gland. Excision biopsy of the retro-auricular lymph node was suggestive of Kimura's disease (KD). The patient responded well to systemic corticosteroid. KD rarely affects orbit, but it should be included in the differential diagnosis of inflammatory diseases of the orbit. To our knowledge, this is the first reported case of KD from India involving the orbit, lacrimal gland, extraocular muscles, parotid gland and buccal area. [ABSTRACT FROM AUTHOR]

Purpose: To study the features of upper eyelid in healthy individual and different types of congenital ptosis in the Indian population using ultrasound biomicroscopy (UBM).Methods: This was a prospective observational study at a tertiary care center. Eyelid structure of healthy individuals with no eyelid abnormalities (n = 19); simple congenital ptosis (n = 33) cases; Marcus Gunn jaw-winking ptosis (MGJWP, n = 7) cases, and blepharophimosis-ptosis-epicanthus inversus syndrome (BPES, n = 20) cases were studied on a vertical UBM scan using 50-MHz probe. Lid-thickness, tarsal-thickness, orbicularis oculi and levator-Muller-orbital septum-conjunctival (LMSC) complex were measured in primary gaze. Comparison was made between four groups and results were statistically analyzed using ANOVA test. In normal individuals, LMSC measurements were repeated in down-gaze imaging.Results: Skin with subcutaneous tissue, LMSC complex and pre-aponeurotic fat-pad appeared echodense while orbicularis oculi and tarsus appeared echolucent. In primary gaze, mean thickness (± standard deviation) of the eyelid, tarsus, orbicularis oculi and LMSC, respectively, were: 1.612 ± 0.205, 0.907 ± 0.098, 0.336 ± 0.083, and 0.785 ± 0.135 mm in normal individual. LMSC showed 46.64% increase in thickness on down-gaze. The mean eyelid thickness and LMSC were thicker in MGJWP and BPES as compared to normal. In different types of congenital ptosis cases, various patterns of UBM imaging were observed.Conclusion: UBM allows noninvasive imaging of eyelid structures with good anatomical correspondence in normal eyelids and study the structural alterations of eyelids in different types of congenital ptosis. UBM can be used to highlight the anatomical difference in normal eyelids that may help modify the surgery for better cosmetic outcomes. Furthermore, it has the potential to be used in preoperative evaluation and operative planning in certain types of acquired ptosis, which needs to be evaluated. [ABSTRACT FROM AUTHOR]

A 2-year 7-month-old girl born out of a consanguineous marriage, presented at our facility with clinical features characterized by the eyelid triad of blepharophimosis, blepharoptosis and epicanthus inversus in association with hypertelorism, cleft palate and craniosynostosis. This constellation of features is suggestive of Michels syndrome. At the time of writing this report, there were only ten reported cases worldwide and to the best of our knowledge, there have been no published reports from India. [ABSTRACT FROM AUTHOR]

The article discusses a study on the identification of intragenic FOXL2 mutations in Indian families with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). It is a genetic condition characterized by eyelid malformation. The researchers reported a nonsense mutation in a BPES type I family and a recurrent duplication leading to a polyalanine expression in a BPES type II family. It was found that the genotype-phenotype correlations are in agreement with previous mutation studies in BPES.

Background: Retinoblastoma is most common intraocular malignancy of infancy. Globally screening is recommended for 'at risk' children. Despite knowing this, Indian Cancer Society undertook general screening at behest of a corporate donor. Scenario in India is challenging as children at rural, urban slums are not routinely screened for any of eye disease. ICS implemented the pilot project among underprivileged children with primary aim of spreading awareness and improve the ocular health. Though expected outcome was zero retinoblastoma suspect cases; based on past projects it was expected that other eye conditions like squint, cataract etc. would be identified in a few. Aim: To screen 4500 children below 4 years of age at Indian rural and suburban slum areas. To create awareness about retinoblastoma and other eye conditions in community. Methods: Locations were identified where literacy, awareness, immunization coverage were low. Partners were selected a team of experts (ocular oncologists, pediatric ophthalmologists, optometrists, paramedical staff) were deployed for implementation. For awareness, all parents coming for the immunization, Aaganwadis and preschools etc. were given a talk on the importance of child eye screening and various disease which can be detected and prevented through simple eye examination. Special community level programs planned to create awareness about retinoblastoma and early childhood eye screening. Brochures and pamphlets were to be given in the vernacular language of the region. Screening for retinoblastoma was planned in 2 phases, those found to have positive red reflex in stage 1 are subjected to dilation, after obtaining consent from the parents. Proformas were filled in and treatment was given as per the pediatric eye disease identified. Results: In 5 months 2450 children were screened, at tribal area and in suburban slum areas. Awareness sessions were conducted for 348 mothers in batches at the tribal area and similarly for mothers and teachers at Anganwadi, schools. None of the parents/teachers were aware about cancer of eye. A thorough eye check-up was done based on the suggestions of the American Association of Pediatric eye diseases and special attention was given to tests such as Bruckners test. Number of children suspected of retinoblastoma was nil, however, 6% children were found to have other eye conditions such as congenital cataract, corneal opacity, refractive errors, squints and ptosis in the tribal area and project is ongoing in suburban area. Treatment was given as per the protocol for same. Conclusion: Screening for retinoblastoma for not at risk children is not recommended. Main aim for implementing retinoblastoma awareness program is to integrate it with immunization or nutritional program in India. This would ensure standardized ocular care. Challenges are numerous, such as lack of infrastructure, poor literacy rates, low income levels. Yet, innovative strategies are needed for better impact of awareness programs. [ABSTRACT FROM AUTHOR]